M Cauldwell1, P J Steer2, D Adamson3, C Alexander4, L Allen5, C Bhagra6, A Bolger7, S Bonner8, M Calanchini9, A Carroll10, R Casey11, S Curtis12, C Head13, K English14, L Hudsmith15, R James16, E Joy14, N Keating17, L MacKiliop18,19, F McAuliffe17, R K Morris20, A Mohan21, K Von Klemperer22, M Kaler23, D A Rees24, A Shetty25, F Siddiqui26, L Simpson4, L Stocker27, P Timmons28, S Vause8, H E Turner29. 1. Department of Obstetrics, Maternal Medicine Service, St George's Hospital, London, UK. 2. Academic Department of Obstetrics and Gynaecology, Chelsea and Westminster Hospital, London, UK. 3. Department of Cardiology, University Hospitals Coventry and Warwickshire, Coventry, UK. 4. Department of Obstetrics, Edinburgh Royal Infirmary, Edinburgh, UK. 5. Department of Endocrinology, Cardiff and Vale University Health Board, Cardiff, UK. 6. Department of Cardiology, Addenbrookes Hospital, Cambridge, UK. 7. Department of Adult Congenital Heart Disease, Glenfield Hospital, Leicester, UK. 8. Saint Mary's Managed Clinical Service, Manchester University Foundation Trust, Manchester, UK. 9. Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. 10. Department of Congenital Cardiology, University Hospital Southampton NHS Foundation Trust, Southampton, UK. 11. Department of Endocrinology, Addenbrookes Hospital, Cambridge, UK. 12. Adult Congenital Heart Disease Service, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. 13. Cardiology Department, Norfolk and Norwich University Hospital, Norwich, UK. 14. Department of Adult Congenital Heart Disease, Leeds Teaching Hospitals NHS Trust, Leeds, UK. 15. Department of Adult Congenital Heart Disease, University Hospitals Birmingham, Birmingham, UK. 16. Department of Cardiology, University Hospitals Sussex, Brighton, UK. 17. Department of Obstetrics, UCD Perinatal Research Centre, School of Medicine, University College Dublin, National Maternity Hospital, Dublin, Ireland. 18. Women's Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. 19. NIHR Oxford Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. 20. Academic Department of Obstetrics, Birmingham Women's and Children's NHS Foundation Trust, University of Birmingham, Birmingham, UK. 21. Department of Obstetrics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. 22. Adult Congenital Heart Disease, Barts Heart Centre, London, UK. 23. Department of Obstetrics, Royal London Hospital, London, UK. 24. Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK. 25. Department of Obstetrics, Aberdeen Royal Infirmary, Aberdeen, UK. 26. Department of Obstetrics, Royal Leicester Infirmary, Leicester, UK. 27. Department of Obstetrics, Princess Anne Hospital, Southampton, UK. 28. Department of Obstetrics, Norfolk and Norwich University Hospitals, Norwich, UK. 29. Department of Endocrinology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Abstract
OBJECTIVE: To determine the characteristics and outcomes of pregnancy in women with Turner syndrome. DESIGN: Retrospective 20-year cohort study (2000-20). SETTING: Sixteen tertiary referral maternity units in the UK. POPULATION OR SAMPLE: A total of 81 women with Turner syndrome who became pregnant. METHODS: Retrospective chart analysis. MAIN OUTCOME MEASURES: Mode of conception, pregnancy outcomes. RESULTS: We obtained data on 127 pregnancies in 81 women with a Turner phenotype. All non-spontaneous pregnancies (54/127; 42.5%) were by egg donation. Only 9/31 (29%) pregnancies in women with karyotype 45,X were spontaneous, compared with 53/66 (80.3%) pregnancies in women with mosaic karyotype 45,X/46,XX (P < 0.0001). Women with mosaic karyotype 45,X/46,XX were younger at first pregnancy by 5.5-8.5 years compared with other Turner syndrome karyotype groups (P < 0.001), and more likely to have a spontaneous menarche (75.8% versus 50% or less, P = 0.008). There were 17 miscarriages, three terminations of pregnancy, two stillbirths and 105 live births. Two women had aortic dissection (2.5%); both were 45,X karyotype with bicuspid aortic valves and ovum donation pregnancies, one died. Another woman had an aortic root replacement within 6 months of delivery. Ten of 106 (9.4%) births with gestational age data were preterm and 22/96 (22.9%) singleton infants with birthweight/gestational age data weighed less than the tenth centile. The caesarean section rate was 72/107 (67.3%). In only 73/127 (57.4%) pregnancies was there documentation of cardiovascular imaging within the 24 months before conceiving. CONCLUSIONS: Pregnancy in women with Turner syndrome is associated with major maternal cardiovascular risks; these women deserve thorough cardiovascular assessment and counselling before assisted or spontaneous pregnancy managed by a specialist team. TWEETABLE ABSTRACT: Pregnancy in women with Turner syndrome is associated with an increased risk of aortic dissection.
OBJECTIVE: To determine the characteristics and outcomes of pregnancy in women with Turner syndrome. DESIGN: Retrospective 20-year cohort study (2000-20). SETTING: Sixteen tertiary referral maternity units in the UK. POPULATION OR SAMPLE: A total of 81 women with Turner syndrome who became pregnant. METHODS: Retrospective chart analysis. MAIN OUTCOME MEASURES: Mode of conception, pregnancy outcomes. RESULTS: We obtained data on 127 pregnancies in 81 women with a Turner phenotype. All non-spontaneous pregnancies (54/127; 42.5%) were by egg donation. Only 9/31 (29%) pregnancies in women with karyotype 45,X were spontaneous, compared with 53/66 (80.3%) pregnancies in women with mosaic karyotype 45,X/46,XX (P < 0.0001). Women with mosaic karyotype 45,X/46,XX were younger at first pregnancy by 5.5-8.5 years compared with other Turner syndrome karyotype groups (P < 0.001), and more likely to have a spontaneous menarche (75.8% versus 50% or less, P = 0.008). There were 17 miscarriages, three terminations of pregnancy, two stillbirths and 105 live births. Two women had aortic dissection (2.5%); both were 45,X karyotype with bicuspid aortic valves and ovum donation pregnancies, one died. Another woman had an aortic root replacement within 6 months of delivery. Ten of 106 (9.4%) births with gestational age data were preterm and 22/96 (22.9%) singleton infants with birthweight/gestational age data weighed less than the tenth centile. The caesarean section rate was 72/107 (67.3%). In only 73/127 (57.4%) pregnancies was there documentation of cardiovascular imaging within the 24 months before conceiving. CONCLUSIONS: Pregnancy in women with Turner syndrome is associated with major maternal cardiovascular risks; these women deserve thorough cardiovascular assessment and counselling before assisted or spontaneous pregnancy managed by a specialist team. TWEETABLE ABSTRACT: Pregnancy in women with Turner syndrome is associated with an increased risk of aortic dissection.